Abstract
Resistance to activated protein C (APC resistance) was identified as the cause of familial thrombophilia by Dahlbäck et al. in 1993 [4]. Only one year later the underlying genetic defect of the APC resistance has been demonstrated by Bertina and colleagues [1]. APC resistance is the result of the point mutation G 1691 A within exon 10 of the factor V gene. This mutation was named as factor V mutation “Leiden” and results in an exchange of the amino acid arginine (R) to glutamine (Q) at position 506 of the factor V protein. The altered factor V molecule is resistant to cleavage by activated protein C. As a consequence, factor V acts as a procoagulant and a thrombotic tendency results. Homozygosity for the 1691 A allele carries a markedly increased risk (80–100 fold) for venous thromboembolism and in the heterozygous state the risk is 7–10 fold greater than in normal subjects.
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References
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Maak, B., Kochhan, L., Heuchel, P., Herrmann, F.H. (2008). Pseudohomozygous APC Resistance Report on Two Patients and a Novel Mutation in the Factor V Gene. In: Scharrer, I., Schramm, W. (eds) 37th Hemophilia Symposium. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-73535-9_40
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DOI: https://doi.org/10.1007/978-3-540-73535-9_40
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